Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs999885
rs999885
3 0.925 0.120 7 100103553 intron variant G/A snv 0.56 0.46 0.020 1.000 2 2012 2014
dbSNP: rs12438080
rs12438080
2 1.000 0.080 15 100541858 intron variant A/C snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs2295660
rs2295660
1 1.000 0.080 14 100734443 synonymous variant T/C snv 1.1E-02 1.2E-02 0.010 1.000 1 2007 2007
dbSNP: rs2305160
rs2305160
9 0.776 0.200 2 100974842 missense variant A/G snv 0.71 0.75 0.010 1.000 1 2014 2014
dbSNP: rs4919510
rs4919510
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.020 0.500 2 2014 2016
dbSNP: rs1053096
rs1053096
1 1.000 0.080 2 100996153 3 prime UTR variant T/C snv 0.61 0.010 1.000 1 2014 2014
dbSNP: rs16405
rs16405
4 0.882 0.120 10 101553963 3 prime UTR variant AACAGTGGA/- del 0.31 0.010 1.000 1 2010 2010
dbSNP: rs3821204
rs3821204
6 0.807 0.160 2 102343821 3 prime UTR variant C/G snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2014 2014
dbSNP: rs750521832
rs750521832
14 0.732 0.200 11 102718452 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs743572
rs743572
24 0.672 0.360 10 102837395 5 prime UTR variant A/G;T snv 0.40; 8.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs751402
rs751402
15 0.724 0.360 13 102845848 5 prime UTR variant A/G snv 0.76 0.010 1.000 1 2017 2017
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2016 2016
dbSNP: rs873601
rs873601
25 0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs5945919
rs5945919
1 1.000 0.080 X 102963359 intergenic variant A/G snv 0.20 0.010 1.000 1 2013 2013
dbSNP: rs17401966
rs17401966
7 0.790 0.280 1 10325413 intron variant A/G snv 0.24 0.900 0.833 12 2010 2019
dbSNP: rs3748578
rs3748578
1 1.000 0.080 1 10360860 intron variant G/A snv 0.29 0.010 1.000 1 2016 2016
dbSNP: rs745564626
rs745564626
14 0.752 0.280 14 103699003 missense variant C/G;T snv 4.3E-05 0.010 1.000 1 2016 2016
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.070 1.000 7 2008 2019
dbSNP: rs1297812518
rs1297812518
9 0.763 0.160 14 103707168 missense variant G/A snv 1.3E-05 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs1799794
rs1799794
12 0.763 0.320 14 103712930 splice region variant T/C snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs157077
rs157077
3 1.000 0.080 10 104278136 intron variant T/C snv 0.45 0.53 0.010 1.000 1 2015 2015
dbSNP: rs7085725
rs7085725
1 1.000 0.080 10 104300451 3 prime UTR variant T/C snv 9.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2494752
rs2494752
10 0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85 0.010 1.000 1 2018 2018